NAXD

Chr 13q34

NAD(P)HX dehydratase

Aliases:: LP3298, FLJ10769
MANE:: ENST00000680254.1

OMIM: 615910 ↗NCBI: 55739 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NAXD · Q8IW45

v62025-08-01

Predicted Aligned Error matrix for NAXD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.3/ 100

Confident

347 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)8%
Low(50–70)10%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

NAD(P)HX dehydratase deficiency
0.75
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
0.55
inborn mitochondrial metabolism disorder
0.37
mitochondrial disease
0.37
tympanic membrane perforation
0.28
tympanic membrane disorder
0.28
central nervous system cancer
0.26
protozoa infectious disease
0.26
cerebral atherosclerosis
0.25
peritonitis
0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ATP-dependent (S)-NAD(P)H-hydrate dehydratase

Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration